A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230780



Internal ID22372029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:69183542..69200147hg38UCSC Ensembl
Outerchr16:69217445..69234050hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg384998
hg194998
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259875, nssv14259876, nssv14259874, nssv14259873, nssv14259870, nssv14259871, nssv14259877, nssv14259869, nssv14259872
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSNTB2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230780
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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